Sugi Variant

Sugi Variant/RORA

RORA — 303 ClinVar variants

All ClinVar germline RORA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

16 Pathogenic · 3 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 11 Conflicting · 4 Benign · 2 Benign/Likely benign · 71 Likely benign · 168 Uncertain significance

Full RORA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 24

The independent predictors disagree with each other — read with care.

All RORA variants

Pathogenic 16

  • c.283-2A>G Single submitter
  • c.424+1G>A Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Ala190fs Single submitter
  • p.Arg119Ter Single submitter
  • p.Arg147Ter Single submitter
  • p.Asp118fs Single submitter
  • p.Cys245fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gln167Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gln169Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gln174Ter Single submitter
  • p.Glu293fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gly92Ala Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Lys357Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Lys62Ter Single submitter Inborn genetic diseases
  • p.Phe423fs Single submitter Inborn genetic diseases
  • p.Ser269fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Pathogenic/Likely pathogenic 3

  • p.Arg462Ter Multiple submitters Inborn genetic diseases
  • p.Arg500Ter Multiple submitters RORA-related disorder
  • p.Arg340fs No assertion criteria Severe intellectual deficiency

Likely pathogenic 28

  • c.1075+2del Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.196+51421T>A Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.424+2T>C Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.821-17_827delinsGCTTTCGTGTTTG Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.821-1G>C Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.942+1_942+2delinsC Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Ala338Asp Single submitter
  • p.Arg124Cys Single submitter Inborn genetic diseases
  • p.Arg129Gln Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Arg140Ter Single submitter RORA-related disorder
  • p.Asn187fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Cys125Tyr Single submitter Inborn genetic diseases
  • p.Gln289Ter Single submitter
  • p.Gln332_Tyr333insTer Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gln454Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Glu307Ter Single submitter
  • p.Gly92Ser Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.His84Pro Single submitter
  • p.Ile366fs Single submitter
  • p.Ile449fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Ile68Asn Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Lys144Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Lys240_Pro241insSerTer Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Lys94Arg Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Phe372Ser Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Trp300Ter Single submitter neurodevelopmental disorder
  • p.Trp435Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Tyr186Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Conflicting classifications of pathogenicity 11

  • c.196+51343A>G Single submitter Inborn genetic diseases
  • c.196+51382_196+51385del Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • c.196+51412G>T Single submitter Inborn genetic diseases
  • p.Ala23Asp Single submitter Inborn genetic diseases ⚠
  • p.Arg147Gln Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia ⚠
  • p.Arg46Ser Single submitter neurofibromatosis type 1 ⚠
  • p.Arg483Ter Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia ⚠
  • p.Gly206Arg Single submitter ⚠
  • p.Ile449Val Single submitter Inborn genetic diseases ⚠
  • p.Lys339Thr Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia ⚠
  • p.Pro209fs Single submitter intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Benign 4

  • p.Asn261= Multiple submitters
  • p.Asp205= Multiple submitters
  • p.Gln168= Multiple submitters
  • p.Thr476= Multiple submitters intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Benign/Likely benign 2

  • c.196+51424G>A Multiple submitters intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Glu329= Multiple submitters intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Likely benign 71

Uncertain significance 168